Generation of a human induced pluripotent stem cell line (SDQLCHi057-A) from an Isovaleric aciduria patient carrying novel compound heterozygous mutations in the IVD gene.

Ning Liu, Yuan Zhang, Rui Dong, Yuqiang Lv, Ming Gao, Xiaomeng Yang, Yi Liu, Zhongtao Gai

Stem cell research 2024 Apr

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Isovaleric acidemia (IVA; OMIM ID#243500) is an inborn error of leucine metabolism caused by a deficiency of isovaleryl-CoA dehydrogenase (IVD). In this study, we generated a human induced pluripotent stem cell line (hiPSCs) SDQLCHi057-A from a 2-year-7-month old boy with IVA carrying two heterozygous missense mutations c.215A > G (p.N72S) and c.883A > G (p.M295V) of the IVD gene. Patient-specific hiPSCs provide a proper model for further understanding this rare disease. Copyright © 2024 The Author(s). Published by Elsevier B.V. All rights reserved.

Citation

Ning Liu, Yuan Zhang, Rui Dong, Yuqiang Lv, Ming Gao, Xiaomeng Yang, Yi Liu, Zhongtao Gai. Generation of a human induced pluripotent stem cell line (SDQLCHi057-A) from an Isovaleric aciduria patient carrying novel compound heterozygous mutations in the IVD gene. Stem cell research. 2024 Apr;76:103314